Congenital Malformations in Newborns—A Challenge Unmet for Decades

Congenital malformations (CMs), or birth defects, cause significant morbidity and mortality in newborns. From the 1970s to the 1990s, the prevalence of CMs was 33.9 per 1000 live births in the United States.1Lary J.M. Paulozzi L.J. Sex differences in the prevalence of human birth defects: a population-based study.Teratology. 2001; 64: 237-251Crossref PubMed Scopus (110) Google Scholar In the current issue of this journal, Egbe et al2Egbe A. Uppu S. Lee S. Stroustrup A. Ho D. Srivastava S. Congenital malformations in the newborn population: a population study and analysis of the effect of gender and prematurity.Pediatr Neonatol. 2015; 56: 25-30Abstract Full Text Full Text PDF Scopus (44) Google Scholar report the prevalence of CMs in 2008 as 28.9 per 1000 live births, which provides important follow-up data from the United States. Although these results are similar to those from the 1970s up to 2008, they reflect the nationwide prevalence. However, it is surprising that over these years, the prevalence of CMs has not appreciably decreased. This stability might be due to the detection of certain CMs in the third trimester, which exceeds the legal period for termination. In addition, owing to improvements in postnatal surgical and medical care, several CMs can be corrected after birth, and, therefore, such cases need not be terminated. A third explanation is the decision of the parents based on different cultures and religions.Compared with the estimated prevalence of CMs in the United States of 47.2 per 1000 live births according to a report by the March of Dimes,3Christianson A. Howson C.P. Modell B. The March of Dimes global report on birth defects, the hidden toll of dying and disabled children. The March of Dimes Foundation, White Plains, New York2006Google Scholar the prevalence of CMs is higher in Middle Eastern and African counties, at up to 70 per 1000 live births, whereas that in the European countries is lower, at approximately 40 per 1000 live births. This result correlates with the national income, as higher-income countries display a lower CM prevalence.3Christianson A. Howson C.P. Modell B. The March of Dimes global report on birth defects, the hidden toll of dying and disabled children. The March of Dimes Foundation, White Plains, New York2006Google Scholar Compared with other countries, the reported prevalence of CMs in Taiwan is surprisingly low; a report from the birth registry in 2002 revealed that the prevalence of CMs was 7 per 1000 live births.4Chen B.Y. Hwang B.F. Guo Y.L. Epidemiology of congenital anomalies in a population-based birth registry in Taiwan, 2002.J Formos Med Assoc. 2009; 108: 460-468Abstract Full Text PDF PubMed Scopus (28) Google Scholar This result might be due to underreporting or the higher abortion rate of prenatally identified cases in Taiwan.There are two predominant methods to collect CM data. One method is the use of birth registries, which are primarily managed by obstetricians. The other method is the examination of the International Classification of Diseases, Ninth Revision (ICD-9), codes from a hospital or insurance system. Based on our experience, the birth registry system tends to report a lower identification rate than the ICD-9 codes. This disparity occurs because some CMs may not be identified at birth, although in the current pediatric practice setting, CMs in newborns are typically easily identified based on careful physical examination and the availability of sonography screening before discharge.The role of pediatricians for patients with CM is to provide basic care, to rapidly recognize various types of CMs, and to provide basic treatment and counseling, as well as to refer the patient to a specialist when necessary.5World Health Organization Birth defects. WHO, Geneva, Switzerland2010Google Scholar The etiology of CM is categorized as follows: 25% of CMs are caused by a chromosomal anomaly; 20% are caused by a single-gene disorder; 5% are caused by an environmental factor; and approximately 50% are caused by multiple factors.6Biesecker L.G. Thompson & Thompson genetics in medicine.8th ed. Elsevier, Canada2007Google Scholar Elucidating the etiology of a CM helps prevent a future CM in subsequent pregnancies, especially for those that are due to inherited genetic disorders, which display a high recurrence risk; only accurate diagnosis assists in guiding prenatal care.The strategies for the prevention of CM include environmental protection, genetic counseling, and prenatal surveillance. Recently, because of technical progress in preimplantation diagnosis, the increased availability of the noninvasive fetal trisomy (NIFTY) test, and the application of next-generation sequencing or array comparative genomic hybridization, the prenatal diagnosis of genetic syndromes and CMs has increased. In 2010, the World Health Organization announced an action to prevent CMs via the following strategies: family planning, preconception screening, and counseling; optimization of women’s diet before and throughout pregnancy; prevention and treatment of teratogen-induced infections; and the optimization of maternal health, antenatal screening, prenatal diagnosis, and fetal treatment using nationwide policy- and public health-based approaches.5World Health Organization Birth defects. WHO, Geneva, Switzerland2010Google Scholar We hope that their efforts will dramatically decrease the prevalence of CMs in the near future.Conflicts of interestThe authors declare no conflicts of interest. Congenital malformations (CMs), or birth defects, cause significant morbidity and mortality in newborns. From the 1970s to the 1990s, the prevalence of CMs was 33.9 per 1000 live births in the United States.1Lary J.M. Paulozzi L.J. Sex differences in the prevalence of human birth defects: a population-based study.Teratology. 2001; 64: 237-251Crossref PubMed Scopus (110) Google Scholar In the current issue of this journal, Egbe et al2Egbe A. Uppu S. Lee S. Stroustrup A. Ho D. Srivastava S. Congenital malformations in the newborn population: a population study and analysis of the effect of gender and prematurity.Pediatr Neonatol. 2015; 56: 25-30Abstract Full Text Full Text PDF Scopus (44) Google Scholar report the prevalence of CMs in 2008 as 28.9 per 1000 live births, which provides important follow-up data from the United States. Although these results are similar to those from the 1970s up to 2008, they reflect the nationwide prevalence. However, it is surprising that over these years, the prevalence of CMs has not appreciably decreased. This stability might be due to the detection of certain CMs in the third trimester, which exceeds the legal period for termination. In addition, owing to improvements in postnatal surgical and medical care, several CMs can be corrected after birth, and, therefore, such cases need not be terminated. A third explanation is the decision of the parents based on different cultures and religions. Compared with the estimated prevalence of CMs in the United States of 47.2 per 1000 live births according to a report by the March of Dimes,3Christianson A. Howson C.P. Modell B. The March of Dimes global report on birth defects, the hidden toll of dying and disabled children. The March of Dimes Foundation, White Plains, New York2006Google Scholar the prevalence of CMs is higher in Middle Eastern and African counties, at up to 70 per 1000 live births, whereas that in the European countries is lower, at approximately 40 per 1000 live births. This result correlates with the national income, as higher-income countries display a lower CM prevalence.3Christianson A. Howson C.P. Modell B. The March of Dimes global report on birth defects, the hidden toll of dying and disabled children. The March of Dimes Foundation, White Plains, New York2006Google Scholar Compared with other countries, the reported prevalence of CMs in Taiwan is surprisingly low; a report from the birth registry in 2002 revealed that the prevalence of CMs was 7 per 1000 live births.4Chen B.Y. Hwang B.F. Guo Y.L. Epidemiology of congenital anomalies in a population-based birth registry in Taiwan, 2002.J Formos Med Assoc. 2009; 108: 460-468Abstract Full Text PDF PubMed Scopus (28) Google Scholar This result might be due to underreporting or the higher abortion rate of prenatally identified cases in Taiwan. There are two predominant methods to collect CM data. One method is the use of birth registries, which are primarily managed by obstetricians. The other method is the examination of the International Classification of Diseases, Ninth Revision (ICD-9), codes from a hospital or insurance system. Based on our experience, the birth registry system tends to report a lower identification rate than the ICD-9 codes. This disparity occurs because some CMs may not be identified at birth, although in the current pediatric practice setting, CMs in newborns are typically easily identified based on careful physical examination and the availability of sonography screening before discharge. The role of pediatricians for patients with CM is to provide basic care, to rapidly recognize various types of CMs, and to provide basic treatment and counseling, as well as to refer the patient to a specialist when necessary.5World Health Organization Birth defects. WHO, Geneva, Switzerland2010Google Scholar The etiology of CM is categorized as follows: 25% of CMs are caused by a chromosomal anomaly; 20% are caused by a single-gene disorder; 5% are caused by an environmental factor; and approximately 50% are caused by multiple factors.6Biesecker L.G. Thompson & Thompson genetics in medicine.8th ed. Elsevier, Canada2007Google Scholar Elucidating the etiology of a CM helps prevent a future CM in subsequent pregnancies, especially for those that are due to inherited genetic disorders, which display a high recurrence risk; only accurate diagnosis assists in guiding prenatal care. The strategies for the prevention of CM include environmental protection, genetic counseling, and prenatal surveillance. Recently, because of technical progress in preimplantation diagnosis, the increased availability of the noninvasive fetal trisomy (NIFTY) test, and the application of next-generation sequencing or array comparative genomic hybridization, the prenatal diagnosis of genetic syndromes and CMs has increased. In 2010, the World Health Organization announced an action to prevent CMs via the following strategies: family planning, preconception screening, and counseling; optimization of women’s diet before and throughout pregnancy; prevention and treatment of teratogen-induced infections; and the optimization of maternal health, antenatal screening, prenatal diagnosis, and fetal treatment using nationwide policy- and public health-based approaches.5World Health Organization Birth defects. WHO, Geneva, Switzerland2010Google Scholar We hope that their efforts will dramatically decrease the prevalence of CMs in the near future. Conflicts of interestThe authors declare no conflicts of interest. The authors declare no conflicts of interest.

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